A Longitudinal Case of Adult-Onset Progressive Ataxia in a Patient with a Pathogenic Variant of IRF2BPL
Objective: To describe the course of a patient with an inherited IRF2BPL variant presenting as adult-onset indolent ataxia and tremor with no prior developmental abnormalities,…Clinico-radiological Phenotype of a Unique Family with Mutations in PRKN Over Three Decades
Objective: To report the clinico-radiological phenotype and progression of a female proband and her parents with mutations in the PRKN gene. Background: Bi-allelic PRKN mutations…Monogenic Parkinson’s Disease Australia (MonoPDAus) Project Update
Objective: 1. To improve genetic testing access and diagnostic rates of monogenic Parkinson’s Disease (PD) in Australia.2. To establish genotype-phenotype correlation to inform personalised treatment…Association between Smoking and LRRK2 Variants on Parkinson’s Disease Risk
Objective: To examine whether smoking modifies the association between protective LRRK2 variants (N551K and R1398H) and the risk of Parkinson’s disease in a case-control cohort.…Machine Learning-Based Frequency-Domain Analysis of Gait Acceleration for Huntington’s Disease Detection
Objective: To investigate the diagnostic utility of machine learning-driven frequency-domain analysis of gait acceleration for the objective identification of Huntington’s Disease (HD). Background: Gait disturbances…Identification of DAGLB Variants in Chinese Patients With Early-Onset Parkinson’s Disease
Objective: This study aimed to assess the mutational spectrum and genetic contribution of DAGLB in Parkinson’s disease (PD) at both the individual and population levels.…Lack of Association Between Polygenic Risk Scores for Parkinson’s Disease and Age at Onset, Freezing of Gait, or Psychosis
Objective: To evaluate whether the polygenic risk scores of Parkinson’s disease (PD-PRS) is associated with age at disease onset (AAO), freezing of gait (FOG) or…Deep Brain Stimulation Outcomes in Parkinson’s Disease Patients With GBA1 Variants: A Systematic Review and Meta-analysis
Objective: To compare motor, cognitive, and medication outcomes following deep brain stimulation (DBS) in Parkinson’s disease patients with GBA1 variants versus non-carriers Background: Variants in…Investigating the Link Between Alzheimer’s Disease Genetic Risk Variants and Parkinson’s Disease Cognitive Impairment: An Exploration of Genetic Overlap
Objective: To investigate whether variants from a large Alzheimer’s disease (AD) genome-wide association study (GWAS; Bellenguez et al. 2022) in Europeans - including 85,934 clinically…Smoking and Genetic Interactions in Parkinson’s Disease
Objective: To investigate the interaction between smoking and Asian-specific LRRK2 variants (G2385R and R1628P) in Parkinson’s disease (PD) risk, examining whether smoking modifies the genetic…
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